Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
children
|
| gptkbp:alsoKnownAs |
gptkb:1q44_deletion_syndrome
|
| gptkbp:causedBy |
gptkb:microdeletion_of_chromosome_1q44
|
| gptkbp:diagnosedBy |
chromosomal microarray analysis
|
| gptkbp:firstDescribed |
2008
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
1q44 microdeletion syndrome
|
| gptkbp:inheritance |
autosomal dominant
de novo |
| gptkbp:involvedIn |
gptkb:AKT3
gptkb:HNRNPU gptkb:ZNF238 |
| gptkbp:locatedOnChromosome |
1q44
|
| gptkbp:OMIM |
612337
|
| gptkbp:symptom |
hypotonia
intellectual disability seizures developmental delay corpus callosum abnormalities |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:chromosome_1q44
|
| gptkbp:bfsLayer |
7
|